Seckel syndrome

MONDO:0019342

A rare autosomal recessive inherited syndrome caused by mutations in the ATR gene, RBBP8 gene, CENPJ gene, CEP152 gene, CEP63 gene, NIN gene, DNA2 gene, or TRAIP gene. It is characterized by intrauterine growth retardation, dwarfism, microcephaly, mental retardation, and a "bird-headed" facial appearance.

Also known as: SCKL, Seckel-type Dwarfism, bird-headed dwarfism, nanocephalic Dwarfism

1 clinical trial for this condition and its sub-types, 0 tagged with Seckel syndrome itself.

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Part of

↑ Syndromic disease (7158) ↑ Autosomal recessive disease (999)

Sub-types of Seckel syndrome

Seckel syndrome 7 1 trial
Seckel syndrome 1 0 trials
Seckel syndrome 10 0 trials
Seckel syndrome 11 0 trials
Seckel syndrome 2 0 trials
Seckel syndrome 4 0 trials
Seckel syndrome 5 0 trials
Seckel syndrome 6 0 trials
Seckel syndrome 8 0 trials
Seckel syndrome 9 0 trials
Intrauterine growth retardation with increased mitomycin c sensitivity 0 trials
Microcephaly 13, primary, autosomal recessive 0 trials

Including sub-types (1) Tagged with Seckel syndrome (0)

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